Canonical Allele Identifier: CA5264066

Gene: GLE1

Linked Data

• dbSNP Id: rs139691313
• ExAC: 9:131303421 T / G
• gnomAD v2: 9-131303421-T-G
• gnomAD v3: 9-128541142-T-G
• gnomAD v4: 9-128541142-T-G
• MyVariant Identifiers: chr9:g.131303421T>G (hg19) ; chr9:g.128541142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541142T>G , CM000671.2:g.128541142T>G	GRCh38
NC_000009.11:g.131303421T>G , CM000671.1:g.131303421T>G	GRCh37
NC_000009.10:g.130343242T>G	NCBI36
NG_012073.1:g.41451T>G , LRG_484:g.41451T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1140T>G	ENSP00000507095.1:n.*1140T>G
ENST00000683288.1:c.*2068T>G	ENSP00000507477.1:n.*2068T>G
ENST00000683748.1:c.2096T>G	ENSP00000507377.1:p.Phe699Cys
ENST00000683905.1:c.*745T>G	ENSP00000506960.1:n.*745T>G
ENST00000684139.1:c.1604T>G	ENSP00000507295.1:p.Phe535Cys
ENST00000684210.1:n.1782T>G
ENST00000684314.1:c.1964T>G	ENSP00000507700.1:p.Phe655Cys
ENST00000684331.1:c.*789T>G	ENSP00000507431.1:n.*789T>G
ENST00000684463.1:n.707T>G
ENST00000684646.1:c.1856T>G	ENSP00000507723.1:p.Phe619Cys
ENST00000309971.9:c.2069T>G MANE Select	ENSP00000308622.5:p.Phe690Cys
ENST00000309971.8:c.2069T>G	ENSP00000308622.4:p.Phe690Cys
NM_001003722.1:c.2069T>G , LRG_484t1:c.2069T>G	NP_001003722.1:p.Phe690Cys
XM_006717059.2:c.2105T>G	XP_006717122.1:p.Phe702Cys
XM_006717060.2:c.2078T>G	XP_006717123.1:p.Phe693Cys
XM_011518549.1:c.2105T>G	XP_011516851.1:p.Phe702Cys
XM_011518550.1:c.2105T>G	XP_011516852.1:p.Phe702Cys
XM_011518551.1:c.2096T>G	XP_011516853.1:p.Phe699Cys
XM_011518552.1:c.1346T>G	XP_011516854.1:p.Phe449Cys
XR_242681.3:n.100+2237A>C
XM_006717059.3:c.2105T>G	XP_006717122.1:p.Phe702Cys
XM_006717060.3:c.2078T>G	XP_006717123.1:p.Phe693Cys
XM_011518551.2:c.2096T>G	XP_011516853.1:p.Phe699Cys
XM_024447519.1:c.2078T>G	XP_024303287.1:p.Phe693Cys
NM_001003722.2:c.2069T>G MANE Select	NP_001003722.1:p.Phe690Cys